Literature DB >> 16566042

Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness.

Richard Kharrat1, Masami Yamamoto, Joelle Roume, Sophie Couderc, Francois Vialard, Yvette Hillion, Yves Ville.   

Abstract

OBJECTIVES: To determine the incidence and to examine the karyotype and the outcome of fetuses diagnosed with cystic hygroma (CH) at 11-14 weeks of gestation.
METHODS: The presence of bilateral cystic anechoic cavities in the neck, nuchal translucency (NT), malformations and hydrops was prospectively recorded in 6894 ultrasound examinations in the first trimester, between 2001 and 2004.
RESULTS: Forty-two fetuses (0.62%) were diagnosed with CH in the first trimester of pregnancy and 60% of these had an abnormal karyotype. NT was > or = 3 mm in 83% and hydrops was present in 40% of the cases. The karyotype was abnormal in 25 (69%) of these, showing trisomy 18 and 45,XO more often than trisomy 21. NT was <3 mm in seven cases (17%); no hydrops was present and only one had an abnormal karyotype (47 + 18). Eight babies with CH without aneuploidy or hydrops were born alive, seven among them were without malformations and are developing normally at 1 to 18 months of age, the remaining one presented with CHARGE syndrome.
CONCLUSIONS: CH is an independent entity from NT and its association with increased NT carries a poor prognosis. Copyright 2006 John Wiley & Sons, Ltd.

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Year:  2006        PMID: 16566042     DOI: 10.1002/pd.1423

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  6 in total

1.  Significance of septa in first trimester increased nuchal translucency thickness.

Authors:  Aytul Corbacioglu Esmer; Ibrahim Kalelioglu; Betul Keyif; Mehmet Ozsurmeli; Atıl Yüksel; Recep Has
Journal:  J Med Ultrason (2001)       Date:  2013-06-19       Impact factor: 1.314

2.  Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal Translucency Greater than 2.5 mm.

Authors:  Zhu Zhang; Ting Hu; Jiamin Wang; Qinqin Li; He Wang; Shanling Liu
Journal:  Biomed Res Int       Date:  2019-10-03       Impact factor: 3.411

3.  Bilateral neck cysts as an isolated sonographic finding in the antenatal detection of fetal aneuploidy: a case report.

Authors:  Khalil Abi-Nader; Elisa Filippi; Pranav P Pandya; Elisabeth Peregrine
Journal:  Cases J       Date:  2009-07-06

4.  Prenatal diagnosis of common aneuploidies in transcervical samples using quantitative fluorescent-PCR analysis.

Authors:  Cecilia Bussani; Riccardo Cioni; Alberto Mattei; Massimiliano Fambrini; Mauro Marchionni; Gianfranco Scarselli
Journal:  Mol Diagn Ther       Date:  2007       Impact factor: 4.074

5.  A unique case of recurrent fetal cystic hygroma: first fetus with an inherited heteromorphism of chromosome 1 (1qh+) and the second fetus with 69XXX triploidy.

Authors:  Oana Sorina Tica; Cristina Gug; Andrei Adrian Tica; Cristina Jana Busuioc; Shahram Amiri; Irina Tica; George Bică Brăiloiu; Vlad Iustin Tica
Journal:  Rom J Morphol Embryol       Date:  2020 Jul-Sep       Impact factor: 1.033

6.  Analysis of cystic hygroma diagnosed in the first trimester: Single-center experience

Authors:  Betül Yakıştıran; Orhan Altınboğa; Emre Canpolat; Esra Şükran Çakar; Şevki Çelen; Ali Turhan Çağlar; Yaprak Engin Üstün
Journal:  J Turk Ger Gynecol Assoc       Date:  2019-07-12
  6 in total

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